Isabelle Brun-Heath

Papers authored by Isabelle Brun-Heath

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2016 Montserrat Terrazas, Ivan Ivani, Núria Villegas, Clément Paris, Cándida Salvans, Isabelle Brun-Heath

, Modesto Orozco

Rational design of novel N-alkyl-N capped biostable RNA nanostructures for efficient long-term inhibition of gene expression

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2013 Ehsan Habibi, Arie B. Brinkman, Julia Arand

, Leonie I. I. Kroeze

, Hindrik H. D. Kerstens, Filomena Matarese, Konstantin Lepikhov, Marta Gut, Isabelle Brun-Heath

, Nina C. C. Hubner, Rosaria Benedetti, Lucia Altucci, Joop H. H. Jansen, Jörn Walter, Ivo G. G. Gut and 2 other authors

Whole-Genome Bisulfite Sequencing of Two Distinct Interconvertible DNA Methylomes of Mouse Embryonic Stem Cells

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2012 Marta Kulis, Simon Heath, Marina Bibikova, Ana C. Queirós, Alba Navarro, Guillem Clot

, Alejandra Martínez-Trillos, Giancarlo Castellano

, Isabelle Brun-Heath

, Magda Pinyol, Sergio Barberán-Soler, Panagiotis Papasaikas

, Pedro Jares, Sílvia Beà, Daniel Rico and 26 other authors

Epigenomic analysis detects widespread gene-body DNA hypomethylation in chronic lymphocytic leukemia

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2011 Miles D. Thompson, Marjan M. Nezarati, Gabriele Gillessen-Kaesbach, Peter Meinecke, Roberto Mendoza-Londono, Etienne Mornet, Isabelle Brun-Heath

, Catherine Prost Squarcioni, Laurence Legeai-Mallet, Arnold Munnich, David E. C. Cole

Hyperphosphatasia With Seizures, Neurologic Deficit, and Characteristic Facial Features: Five New Patients With Mabry Syndrome (vol 152A, pg 1661, 2010)

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2010 Isabelle Brun-Heath

, Myriam Ermonval, Elodie Chabrol, Jinsong Xiao, Miklós Palkovits, Ruth Lyck, Florence Miller, Pierre-Olivier Couraud, Etienne Mornet, Caroline Fonta

Differential expression of the bone and the liver tissue non-specific alkaline phosphatase isoforms in brain tissues.

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L. Bellazi, S. Germond, C. Dupont, I. Brun-Heath

, A. Taillandier, P. De Mazancourt, M. N. Dieudonné, E. Mornet

A sequence variation in the promoter of the placental alkaline phosphatase gene (ALPP) is associated with allele-specific expression in human term placenta

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Miles D. Thompson, Marjan M. Nezarati, Gabriele Gillessen‐Kaesbach, Peter Meinecke, Roberto Mendoza, Etienne Mornet, Isabelle Brun‐Heath

, Catherine Prost Squarcioni, Laurence Legeai‐Mallet, Arnold Munnich, David E. C. Cole

Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome

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2009 Delphine Fauvert, Isabelle Brun-Heath

, Anne-Sophie Lia-Baldini, Linda Bellazi, Agnès Taillandier, Jean-Louis Serre, Philippe de Mazancourt, Etienne Mornet

Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

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2008 Brigitte Simon-Bouy, Agnès Taillandier, Jean-Louis Serre, Delphine Fauvert, Carmen G. Armengod, Martin G. Bialer, Michèle Mathieu, Isabelle Brun-Heath

, Jacques Cousin, David Chitayat, Jan Liebelt, Barbara Feldman, Marion Gérard-Blanluet, Stefani Körtge-Jung, Cath King and 9 other authors

Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling

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B. Utsch, I. Brun-Heath

, G. Staatz, C. Gravou-Apostolatou, S. Karle, U. Jacobs, M. Ludwig, M. Zenker, H.-G. Dörr, W. Rascher, E. Mornet, J. Dötsch

Infantile Hypophosphatasia due to a New Compound Heterozygous TNSALP Mutation – Functional Evidence for a Hydrophobic Side-Chain?

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Anne-Sophie Lia-Baldini, I. Brun-Heath

, Claire Carrion, B. Simon-Bouy, J. L. Serre, M. E. Nunes, E. Mornet

A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein

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2007 I. Brun-Heath

, E. Chabrol, M. Fox, K. Drexler, C. Petit, A. Taillandier, P. De Mazancourt, J‐L-L. Serre, E. Mornet

A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene

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Isabelle Brun-Heath

, Anne-Sophie Lia-Baldini, Stéphane Maillard, Agnès Taillandier, Boris Utsch, Mark E. Nunes, Jean-Louis Serre, Etienne Mornet

Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia

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2006 Marc Spentchian, Isabelle Brun-Heath

, Agnès Taillandier, Delphine Fauvert, Jean-Louis Serre, Brigitte Simon-Bouy, Filipa Carvalho, Ilga Grochova, Sarju G. Mehta, Grit Müller, Saskia Lesnik Oberstein

, Gonul Ogur, Saba Sharif, Etienne Mornet

Characterization of Missense Mutations and Large Deletions in theALPLGene by Sequencing and Quantitative Multiplex PCR of Short Fragments

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2005 A. Taillandier, S.-L. Sallinen, I. Brun-Heath

, P. De Mazancourt, J.-L. Serre, E. Mornet

Childhood Hypophosphatasia Due to a de Novo Missense Mutation in the Tissue-Nonspecific Alkaline Phosphatase Gene

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Isabelle Brun-Heath

, Agnes Taillandier, Jean-Louis Serre, Etienne Mornet

Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype–phenotype correlations

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1999 Rolf Bänteli, Ivan Brun

, Philip Hall, Rainer Metternich

A synthesis of the C1N12 tripeptide fragment of sanglifehrin A

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1997 A. Sentenac, M. Werner, I. Brun

Dual role of the C34 subunit of RNA polymerase III in transcription initiation.

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1996 V. Thuillier, I. Brun

, A. Sentenac, M. Werner

Mutations in the alpha-amanitin conserved domain of the largest subunit of yeast RNA polymerase III affect pausing, RNA cleavage and transcriptional transitions.

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Papers authored by Isabelle Brun-Heath